Links from Gene
Items: 1 to 20 of 635
1.
rs1490199680 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:75762437
(GRCh38)
15:76054778
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75762436:G:C
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490006390 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 15:75762653
(GRCh38)
15:76054994
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75762652:A:
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,splice_acceptor_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
3.
rs1489868516 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GAAGC>-
[Show Flanks]
- Chromosome:
- 15:75763558
(GRCh38)
15:76055899
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75763557:GAAGC:
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1489626135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:75763300
(GRCh38)
15:76055641
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75763299:T:C
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000034/9
(TOPMED)
- HGVS:
NC_000015.10:g.75763300T>C, NC_000015.9:g.76055641T>C, XR_932484.3:n.692T>C, XR_932484.2:n.1610T>C, XR_932484.1:n.875T>C, XR_932486.3:n.672T>C, XR_932486.2:n.1590T>C, XR_932486.1:n.861T>C, XR_932487.3:n.597T>C, XR_932487.2:n.1515T>C, XR_932487.1:n.779T>C, XR_002957748.2:n.678T>C, XR_002957748.1:n.1596T>C, XR_002957750.2:n.658T>C, XR_002957750.1:n.1576T>C, XR_002957749.2:n.583T>C, XR_002957749.1:n.1501T>C, XR_007064722.1:n.571T>C
6.
rs1484802261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 15:75762957
(GRCh38)
15:76055298
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75762956:C:A,NC_000015.10:75762956:C:T
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1483658981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:75762854
(GRCh38)
15:76055195
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75762853:C:T
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1482423636 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 15:75762380
(GRCh38)
15:76054721
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75762379:GGG:GG
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000015.10:g.75762382del, NC_000015.9:g.76054723del, XR_932484.3:n.234del, XR_932484.2:n.1152del, XR_932484.1:n.417del, XR_932486.3:n.234del, XR_932486.2:n.1152del, XR_932486.1:n.423del, XR_932487.3:n.234del, XR_932487.2:n.1152del, XR_932487.1:n.416del, XR_002957748.2:n.220del, XR_002957748.1:n.1138del, XR_002957750.2:n.220del, XR_002957750.1:n.1138del, XR_002957749.2:n.220del, XR_002957749.1:n.1138del, XR_007064722.1:n.113del
10.
rs1481385712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:75764030
(GRCh38)
15:76056371
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75764029:C:T
- Gene:
- MIR4313 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1481336053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 15:75763165
(GRCh38)
15:76055506
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75763164:A:T
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000015.10:g.75763165A>T, NC_000015.9:g.76055506A>T, XR_932484.3:n.557A>T, XR_932484.2:n.1475A>T, XR_932484.1:n.740A>T, XR_932486.3:n.537A>T, XR_932486.2:n.1455A>T, XR_932486.1:n.726A>T, XR_932487.3:n.462A>T, XR_932487.2:n.1380A>T, XR_932487.1:n.644A>T, XR_002957748.2:n.543A>T, XR_002957748.1:n.1461A>T, XR_002957750.2:n.523A>T, XR_002957750.1:n.1441A>T, XR_002957749.2:n.448A>T, XR_002957749.1:n.1366A>T, XR_007064722.1:n.436A>T
12.
rs1479698099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:75762750
(GRCh38)
15:76055091
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75762749:G:T
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- splice_donor_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1478303320 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:75764032
(GRCh38)
15:76056373
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75764031:C:G
- Gene:
- MIR4313 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1477790656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:75764298
(GRCh38)
15:76056639
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75764297:C:G
- Gene:
- MIR4313 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000043/6
(GnomAD)
G=0.000045/12
(TOPMED)
- HGVS:
15.
rs1475930685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:75763464
(GRCh38)
15:76055805
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75763463:C:T
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1475331552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:75763544
(GRCh38)
15:76055885
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75763543:G:A,NC_000015.10:75763543:G:C
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
17.
rs1474775324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:75762868
(GRCh38)
15:76055209
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75762867:C:T
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1472839637 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 15:75762351
(GRCh38)
15:76054692
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75762350:T:
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000015.10:g.75762351del, NC_000015.9:g.76054692del, XR_932484.3:n.203del, XR_932484.2:n.1121del, XR_932484.1:n.386del, XR_932486.3:n.203del, XR_932486.2:n.1121del, XR_932486.1:n.392del, XR_932487.3:n.203del, XR_932487.2:n.1121del, XR_932487.1:n.385del, XR_002957748.2:n.189del, XR_002957748.1:n.1107del, XR_002957750.2:n.189del, XR_002957750.1:n.1107del, XR_002957749.2:n.189del, XR_002957749.1:n.1107del, XR_007064722.1:n.82del
19.
rs1471513205 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:75762549
(GRCh38)
15:76054890
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75762548:G:A
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1470822955 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:75763231
(GRCh38)
15:76055572
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75763230:A:C
- Gene:
- MIR4313 (Varview), LOC101929408 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
NC_000015.10:g.75763231A>C, NC_000015.9:g.76055572A>C, XR_932484.3:n.623A>C, XR_932484.2:n.1541A>C, XR_932484.1:n.806A>C, XR_932486.3:n.603A>C, XR_932486.2:n.1521A>C, XR_932486.1:n.792A>C, XR_932487.3:n.528A>C, XR_932487.2:n.1446A>C, XR_932487.1:n.710A>C, XR_002957748.2:n.609A>C, XR_002957748.1:n.1527A>C, XR_002957750.2:n.589A>C, XR_002957750.1:n.1507A>C, XR_002957749.2:n.514A>C, XR_002957749.1:n.1432A>C, XR_007064722.1:n.502A>C